Omodysplasia 2

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Omodysplasia type 2 is a very rare genetic disorder characterised by abnormalities in the skull, long bones and genitourinary system.

Clinical features

These can be grouped under those evident in the skull/face, the long bones and the genitourinary system

• Skull
  • Anteverted nostrils
  • Bifid nasal tip
  • Depressed nasal bridge
  • Fontal bossing
  • Long philtrum
  • Low set ears

• Long bones
  • Short first metacarpal
  • Short humerus

• Genitourinary
  • Genitourinary hypoplasia

Genetics

This condition is inherited in an autosomal dominant fashion.

Mutations in the Frizzled Class Receptor 2 (FZD2) gene have been associated with this condition.<ref name=Nagasaki2018>Nagasaki K, Nishimura G, Kikuchi T, Nyuzuki H, Sasaki S, Ogawa Y, Saitoh A (2018) Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes. Am J Med Genet A doi: 10.1002/ajmg.a.38623 </ref>

Diagnosis

Differential diagnosis

Robinow syndrome

Treatment

There is no currently known treatment for this condition.

History

This condition was first described by Maroteaux et al in 1989.<ref name=Maroteaux1989>Maroteaux P, Sauvegrain J, Chrispin A, Farriaux, JP (1989) Omodysplasia. Am J Med Genet 32:371-375</ref>

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